Disease: Cobblestone Lissencephaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.330 Biomarker disease BEFREE Our study demonstrates that TMTC3 regulates O-linked glycosylation and cadherin-mediated adherence, providing insight into its effect on cellular adherence and migration, as well the basis of TMTC3-associated Cobblestone lissencephaly. 31851597 2020
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.330 Biomarker disease BEFREE Our data identified TMTC3 as a synaptic protein that is involved in PVNH with ID and epilepsy, in addition to its previously described association with cobblestone lissencephaly. 28973161 2017
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.330 Biomarker disease BEFREE Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement. 27773428 2016
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly 		0.330 Biomarker disease GENOMICS_ENGLAND Our data suggest that loss of TMTC3 causes COB with minimal eye or muscle involvement. 27773428 2016